Cholesteryl ester storage disease: Case report during childhood


Akcoren Z., Gogus S., Kocak N., Gurakan F., Ozen H. , Yuce A.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, cilt.2, sa.6, ss.574-576, 1999 (SCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2 Konu: 6
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1007/s100249900164
  • Dergi Adı: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • Sayfa Sayıları: ss.574-576

Özet

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3 1/2-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid Lipase activity in leukocytes.